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c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

Crossref DOI link: https://doi.org/10.1186/s13256-025-05456-z

Published Online: 2025-08-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

da Silva Campos, Talyta Alves https://orcid.org/0009-0000-0540-570X
Bernardes, Alex Honda

Pinto, Irene Plaza

da Silva Teixeira, Hiane Aparecida

da Silva, Juliana Ferreira

do Prado Santos, Victor Cortázio

Zatarin, Raffael

da Cruz, Aparecido Divino
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Text and Data Mining valid from 2025-08-01

Version of Record valid from 2025-08-01
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Article History

Received: 31 January 2025

Accepted: 12 July 2025

First Online: 1 August 2025

Declarations

:

: This study was conducted in accordance with the Declaration of Helsinki and approved by the Institutional Review Board of Pontifical Catholic University of Goiás—PUC/Goiás, protocol code no. 6.057.949—13 May 2023.

: Written informed consent was obtained from the patient’s legal guardians for publication of this case report and any accompanying images. A copy of the signed consent form is available for review by the Editor-in-Chief of this journal.

: The authors declare no conflicts of interest.

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